Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.030 1.000 3 1998 2019
dbSNP: rs121913243
rs121913243
MET
7 0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs137853296
rs137853296
RB1
3 1.000 0.080 13 48463758 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs17653265
rs17653265
GJA1
2 1.000 0.040 6 121447605 missense variant C/T snv 8.1E-03 9.1E-03 0.010 1.000 1 1998 1998
dbSNP: rs749280481
rs749280481
SLC22A18
3 0.925 0.160 11 2922102 missense variant G/A snv 1.3E-04 1.4E-04 0.010 1.000 1 1998 1998
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.100 0.970 67 1999 2020
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.760 0.857 7 1999 2019
dbSNP: rs121913407
rs121913407
CTNNB1
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.050 1.000 5 1999 2019
dbSNP: rs137853081
rs137853081
STK11
2 1.000 0.040 19 1219352 missense variant G/C;T snv 0.020 1.000 2 1999 2019
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs1114167494
rs1114167494
MEN1
3 1.000 0.120 11 64808031 missense variant C/A snv 0.010 1.000 1 1999 1999
dbSNP: rs121913413
rs121913413
CTNNB1
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs137853080
rs137853080
STK11
2 1.000 0.040 19 1207058 missense variant T/G snv 0.010 1.000 1 1999 1999
dbSNP: rs139142865
rs139142865
ACVRL1
2 1.000 0.120 12 51920826 missense variant C/T snv 1.6E-03 2.0E-03 0.010 1.000 1 1999 1999
dbSNP: rs1474630243
rs1474630243
MTX1 ; THBS3
1 1 155209072 missense variant G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs34012126
rs34012126
SLC12A9
1 7 100855831 frameshift variant G/- delins 0.010 1.000 1 1999 1999
dbSNP: rs779179533
rs779179533
TP63
2 1.000 0.080 3 189808322 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs80358225
rs80358225
TACSTD2
2 1.000 0.120 1 58576648 stop gained G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs886039413
rs886039413
MEN1
1 11 64809818 stop gained G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.780 0.909 11 2000 2019
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.080 1.000 8 2000 2019
dbSNP: rs9282858
rs9282858
SRD5A2
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.030 0.667 3 2000 2008
dbSNP: rs149709822
rs149709822
KLK3
4 0.882 0.080 19 50856335 missense variant G/A snv 4.0E-05 2.3E-04 0.020 1.000 2 2000 2008